Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Congenital arteriovenous fistula stenosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Testicular regression syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Sternum bifidum |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Mietens syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital phlebectasia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Junctional epidermolysis bullosa (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hypertelorism |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hay-Wells syndrome of ectodermal dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital rectovaginal fistula |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cutis laxa, x-linked |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Mannosidosis, type I |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital tracheoesophageal fistula with esophageal stenosis (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital tracheoesophageal fistula with esophageal stenosis (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Auriculoocular anomaly and cleft lip syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
An extremely rare syndrome reported in two siblings of non-consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Precocious osteodysplasty (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare multiple congenital anomalies syndrome characterized by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Arachnoid / ependymal cyst |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Anencephalus and similar anomalies |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Laryngeal cleft type III |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Thymic aplasia or dysplasia with immunodeficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Multiple intracardiac shunts |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Double aortic valve |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cryptophthalmos syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Ulnar dimelia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Right descending aorta |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Atrioventricular septal defect with ventricular component under superior bridging leaflet without chordal attachment to ventricular septal crest (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Endocardial fibroelastosis of left atrium (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Segmental neurofibromatosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
albinoïdisme |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Incomplete bilateral cleft palate |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Craniosynostosis with facial dysmorphism and brachydactyly syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Craniosynostosis with facial dysmorphism and brachydactyly syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Craniosynostosis with facial dysmorphism and brachydactyly syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Townes syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa simplex with hypodontia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Talipomanus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Mixed sclerosing bone dysplasia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cleidocranial dysostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Cleidocranial dysostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cleidocranial dysostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Cleidocranial dysostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Retrocaval ureter (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Chondrodysplasia punctata (stippled epiphyses) group (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Nemaline myopathy |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Hydatid cyst of Morgagni - male |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Birthmark |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Incomplete ossification of maxilla |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Sparse hair with short stature and skin anomaly syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Sparse hair with short stature and skin anomaly syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Spondylodysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Spina bifida with stenosis of aqueduct of Sylvius |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Ectodermal dysplasia with hair-tooth defects |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Sialic acid storage disease, severe infantile type |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Osteopathia striata |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
False tendon - heart |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Double cardiac valve orifice |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Netherton syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital arteriovenous fistula thrombosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Craniopagus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Retrosternal thyroid gland |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Synophrys |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Multiple epiphyseal dysplasia Beighton type (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Odontomicronychial ectodermal dysplasia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cherubism with gingival fibromatosis (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Dolichocolon |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |